Canonical Allele Identifier: CA2450719159

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687368_108687370delinsCTA , CM000685.2:g.108687368_108687370delinsCTA	GRCh38
NC_000023.10:g.107930598_107930600delinsCTA , CM000685.1:g.107930598_107930600delinsCTA	GRCh37
NC_000023.9:g.107817254_107817256delinsCTA	NCBI36
NG_011977.1:g.252445_252447delinsCTA
NG_011977.2:g.252445_252447delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4316-114_4316-112delinsCTA MANE Select	ENSP00000331902.7:n.4316-114_4316-112delinsCTA
ENST00000361603.7:c.4298-114_4298-112delinsCTA	ENSP00000354505.2:n.4298-114_4298-112delinsCTA
ENST00000510690.2:n.810-114_810-112delinsCTA
ENST00000328300.10:c.4316-114_4316-112delinsCTA	ENSP00000331902.6:n.4316-114_4316-112delinsCTA
ENST00000361603.6:c.4298-114_4298-112delinsCTA	ENSP00000354505.2:n.4298-114_4298-112delinsCTA
ENST00000489230.1:n.719-114_719-112delinsCTA
ENST00000515658.1:c.112-114_112-112delinsCTA
NM_000495.4:c.4298-114_4298-112delinsCTA	NP_000486.1:n.4298-114_4298-112delinsCTA
NM_033380.2:c.4316-114_4316-112delinsCTA	NP_203699.1:n.4316-114_4316-112delinsCTA
XM_005262070.2:c.4307-114_4307-112delinsCTA	XP_005262127.1:n.4307-114_4307-112delinsCTA
XM_006724616.2:c.4316-114_4316-112delinsCTA	XP_006724679.1:n.4316-114_4316-112delinsCTA
XM_011530849.1:c.3992-114_3992-112delinsCTA	XP_011529151.1:n.3992-114_3992-112delinsCTA
XM_011530851.1:c.1889-114_1889-112delinsCTA	XP_011529153.1:n.1889-114_1889-112delinsCTA
XM_011530849.2:c.4331-114_4331-112delinsCTA	XP_011529151.2:n.4331-114_4331-112delinsCTA
XM_017029259.2:c.4322-114_4322-112delinsCTA	XP_016884748.1:n.4322-114_4322-112delinsCTA
XM_017029260.1:c.4313-114_4313-112delinsCTA	XP_016884749.1:n.4313-114_4313-112delinsCTA
XM_017029263.2:c.2651-114_2651-112delinsCTA	XP_016884752.1:n.2651-114_2651-112delinsCTA
NM_000495.5:c.4298-114_4298-112delinsCTA	NP_000486.1:n.4298-114_4298-112delinsCTA
NM_033380.3:c.4316-114_4316-112delinsCTA MANE Select	NP_203699.1:n.4316-114_4316-112delinsCTA